Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.

Background: O'Donnell-Luria-Rodan (ODLURO) syndrome is a newly described neurodevelopmental disorder caused by a pathogenic KMT2E variant. The primary clinical phenotypes include developmental delay, intellectual disability (ID), and epilepsy. Epilepsy, observed in 29% of affected individuals, has not been thoroughly investigated.

Genetic analysis of partial duplication of the long arm of chromosome 16.

Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).

Diagnostic management of inpatients with a positive D-dimer test: developing a new clinical decision-making rule for pulmonary embolism.

Background: A positive D-dimer test has high sensitivity but relatively poor specificity for the diagnosis of pulmonary embolism, causing difficulty for clinicians unskilled in pulmonary embolism diagnosis in determining whether a patient with a positive D-dimer test needs to undergo computed tomographic pulmonary angiography.

Objectives: We sought to develop a new clinical decision-making rule based on a positive D-dimer result to predict the probability of pulmonary embolism and to guide clinicians in making decisions regarding the need for computed tomographic pulmonary angiography.

Methods: We conducted a prospective, multicenter study in three hospitals in China.

[Clinical effect of ligustrazine combined with citicoline for treatment of diabetic peripheral neuropathy].

Objective: To assess the clinical efficacy of the therapeutic schema for treatment of diabetic peripheral neuropathy (DPN) with ligustrazine and citicoline injection in combination.

Methods: Adopting double-centered randomized controlled trial, 300 patients were randomly assigned to 3 groups, who were treated respectively by ligustrazine plus citicoline (group A), ligustrazine alone (group B) and citicoline alone (group C). Clinical efficacy, symptomatic integral (SI), electromyogram ( EMG), blood sugar and blood lipids were assessed 4 weeks after treatment, and the clinical efficacy and SI were assessed at the end of 3-month follow-up.